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Items: 10

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
SLC13A5
(F535I +3 more)
Single nucleotide variant
(missense variant)
Developmental and epileptic encephalopathy, 25
GUncertain significance
SLC13A5
(L492P +2 more)
Single nucleotide variant
(missense variant +1 more)
Developmental and epileptic encephalopathy, 25
GLikely pathogenic
SLC13A5
Single nucleotide variant
(intron variant)
Developmental and epileptic encephalopathy, 25
GConflicting classifications of pathogenicity
SLC13A5
(L245P +2 more)
Single nucleotide variant
(missense variant)
Developmental and epileptic encephalopathy, 25
GConflicting classifications of pathogenicity
SLC13A5
(G219R +2 more)
Single nucleotide variant
(missense variant)
Developmental and epileptic encephalopathy, 25
+2 more
GPathogenic/Likely pathogenic
SLC13A5
(T145M +2 more)
Single nucleotide variant
(missense variant)
not provided
+1 more
GUncertain significance
SLC13A5
(V131I +1 more)
Single nucleotide variant
(missense variant +1 more)
Developmental and epileptic encephalopathy, 25
+2 more
GUncertain significance
SLC13A5
(N104K +1 more)
Single nucleotide variant
(missense variant)
Developmental and epileptic encephalopathy, 25
GUncertain significance
SLC13A5
(R102H +1 more)
Single nucleotide variant
(missense variant)
not provided
+2 more
GConflicting classifications of pathogenicity
SLC13A5
(F14L)
Single nucleotide variant
(missense variant)
Developmental and epileptic encephalopathy, 25
GUncertain significance
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